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Biochemistry · Clinical biochemistry: haemoglobin variants
Sample itemA 22-year-old woman has mild anaemia with haemoglobin 10.5 g/dL, MCV 62 fL, red cell count 5.6 million per microlitre and a normal serum ferritin. Which investigation is most likely to confirm the diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. HPLC showing raised HbA2
Marked microcytosis with a high red cell count and normal ferritin, giving a Mentzer index (MCV/RBC) of 62/5.6, about 11, below 13, suggests beta-thalassaemia trait. Reduced beta-chain output raises the proportion of HbA2 (alpha2delta2) to above about 3.5%, which HPLC or electrophoresis detects. Iron therapy is not required in the absence of iron deficiency.
Option by option
A. Bone marrow iron stain
A marrow iron stain would be used when iron status is uncertain, which ferritin already clarifies.
B. Sickling test
A sickling test detects HbS, which does not cause this microcytic picture.
C. Serum transferrin saturation
Transferrin saturation is low in iron deficiency, which a normal ferritin makes unlikely.
D. HPLC showing raised HbA2 (correct)
Correct. Raised HbA2 is the diagnostic feature of beta-thalassaemia trait.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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